| Mutation ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000257831 |
| Start |
34658533:34658533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.608A>G |
| AA Mutation |
p.Asn203Ser(p.N203S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257831 |
| Start |
34658860:34658860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.832C>T |
| AA Mutation |
p.Arg278Cys(p.R278C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257831 |
| Start |
34656961:34656961(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.602delA |
| AA Mutation |
p.Lys201SerfsTer18(p.K201Sfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> EHF
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257831 |
| Start |
34658860:34658860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.832C>T |
| AA Mutation |
p.Arg278Cys(p.R278C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|